COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4680
rs4680
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Genetic polymorphism Val158Met of catechol-O-methyltransferase (COMT) may contribute to estrogen-induced carcinogenesis of breast cancer. 20591221 2010
dbSNP: rs4680
rs4680
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE A case-control study was conducted to assess the associations between soy isoflavone intake and the CYP1A1 Ile462Val, CYP1B1 Val432Leu, and COMT Val158Met polymorphisms and breast cancer, as well as their combined effects on breast cancer. 21438753 2011
dbSNP: rs4680
rs4680
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE COMT rs4680 genotypes did not have a modifying effect on the association of green tea intake with breast cancer risk. 19074205 2009
dbSNP: rs4680
rs4680
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Although CYP1B1 and COMT genotypes did not exhibit statistically significant association with breast cancer risks when analyzed individually, COMT wild type (Val(158)Val) in combination with CYP1B1 heterozygous variant (Leu(432)Val) [OR: 0.21; 95% CI (0.05-0.82), p value; 0.021] and COMT heterozygous variant (Val(158)Met) in combination with CYP1B1 wild type (Leu(432)Leu) [OR: 0.29; 95% CI (0.08-0.96), p value; 0.042] showed significant protective association with premenopausal breast cancer risk. 20037207 2009
dbSNP: rs4680
rs4680
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Catechol-O-methyltransferase genotype (Val158met) modulates cancer-related fatigue and pain sensitivity in breast cancer survivors. 21898113 2012
dbSNP: rs1342715506
rs1342715506
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In this study, we evaluated the frequency of different polymorphisms related with estrogen metabolism [COMT Val158Met, CYP17 (5'UTR, T27C); HSD17beta1 Gly313Ser and MnSOD Val16Ala] in a breast cancer resistant population, the Xavante Indians, and the frequencies were compared with the ones reported in other populations where breast cancer case-control studies dealing with these polymorphisms have been carried out. 16969494 2006
dbSNP: rs1445081098
rs1445081098
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We examined associations between polymorphisms in genes related to estrogen metabolism (CYP1B1 codon 432G --> C rs#1056836, CYP1B1 codon 453A --> G rs#1800440, COMT codon 158G --> A rs#4680) and biosynthesis (CYP17 T --> C promoter rs#743572, CYP19 exon 4 TTTA repeat) and urinary estrogen metabolites (2-hydroxyestrogens (2-OHE), 16alpha-hydroxyestrone (16alpha-OHE1), and their ratio) in a pilot study of 64 pre- and post-menopausal women with a family history of breast cancer. 16850246 2007
dbSNP: rs1457049406
rs1457049406
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE An alanine-9valine (Ala-9Val) polymorphism in the mitochondrial targeting sequence of MnSOD has been described and has recently been associated with risk of human breast cancer. 15386537 2005
dbSNP: rs2020917
rs2020917
Entrez Id: 1312;10587
Gene Symbol: COMT;TXNRD2
COMT;TXNRD2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Two common SNPs in the distal promoter for membrane-bound (MB) COMT, rs2020917 and rs737865, were associated with breast cancer risk reduction in premenopausal women in the Mayo Clinic study, with allele-specific odds ratios (OR) of 0.70 [95% confidence interval (CI), 0.52-0.95] and 0.68 (95% CI, 0.51-0.92), respectively. 18632656 2008
dbSNP: rs4818
rs4818
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE These results suggest that COMT rs4818, or a variant it tags, is associated with breast cancer prognosis. 19551860 2009
dbSNP: rs737865
rs737865
Entrez Id: 1312;10587
Gene Symbol: COMT;TXNRD2
COMT;TXNRD2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Two common SNPs in the distal promoter for membrane-bound (MB) COMT, rs2020917 and rs737865, were associated with breast cancer risk reduction in premenopausal women in the Mayo Clinic study, with allele-specific odds ratios (OR) of 0.70 [95% confidence interval (CI), 0.52-0.95] and 0.68 (95% CI, 0.51-0.92), respectively. 18632656 2008
dbSNP: rs74745580
rs74745580
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In summary, the BRCA1 Cys39Gly and CYP17A1 -34T>C</span> genetic variations were associated with breast cancer</span> risk. 29510000 2018
dbSNP: rs757163626
rs757163626
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE These data seem to suggest that individuals who never breast fed with MnSOD Val16Ala variant allele are at a lower risk for breast cancer, but larger studies are required to confirm these results. 16969494 2006
dbSNP: rs764392202
rs764392202
Entrez Id: 1312;100616414
Gene Symbol: COMT;MIR4761
COMT;MIR4761
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In summary, the BRCA1 Cys39Gly</span> and CYP17A1 -34T>C genetic variations were associated with breast cancer risk. 29510000 2018